ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.020 None 1.000 2 2011 2019
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2019 2019
CUI: C0333184
Disease: Calcific stenosis
Calcific stenosis
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 3 4 0.010 None 1.000 1 2014 2014
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2015 2015
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis
disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2016 2016
CUI: C1265713
Disease: Trephine hole
Trephine hole
disease Acquired Abnormality 5 0.010 None < 0.001 1 2018 2018
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
disease Acquired Abnormality 115 15 0.010 None 1.000 1 2009 2009
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.240 None 1.000 6 1993 2018
CUI: C0016169
Disease: pathologic fistula
pathologic fistula
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 71 8 0.010 None < 0.001 1 2004 2004
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2013 2013
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.010 None 1.000 1 2013 2013
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2012 2012
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None < 0.001 1 2016 2016
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.010 None 1.000 1 2011 2011
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality)
disease Anatomical Abnormality 21 8 0.010 None 1.000 1 1996 1996
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2010 2010
CUI: C4732837
Disease: Leptomeningeal enhancement
Leptomeningeal enhancement
phenotype Anatomical Abnormality 6 1 0.010 None 1.000 1 2017 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 2 2017 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 2 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.080 None 0.750 8 1999 2018
Congenital posterior urethral valves
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 26 1 0.030 None 1.000 3 2005 2019
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.020 None 1.000 2 2017 2019
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.020 None 1.000 2 2017 2017
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.020 None 1.000 2 1993 2017
CUI: C4706552
Disease: Familial vesicoureteral reflux
Familial vesicoureteral reflux
disease Congenital Abnormality 6 0.020 None 0.500 2 2001 2002